UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.29534153G>A | CA499152356 | TAOK1 | c.2397G>A (p.Gln799=) c.1953G>A (p.Gln651=) | gnomAD v4 |
| 17 | g.29534153G>C | CA398917053 | TAOK1 | c.2397G>C (p.Gln799His) c.1953G>C (p.Gln651His) | ClinVar |
| 17 | g.29534153G>T | CA398917055 | TAOK1 | c.2397G>T (p.Gln799His) c.1953G>T (p.Gln651His) | |
| 17 | g.29534154G>A | CA289202049 | TAOK1 | c.2398G>A (p.Val800Ile) c.1954G>A (p.Val652Ile) | dbSNP |
| 17 | g.29534154G>C | CA398917058 | TAOK1 | c.2398G>C (p.Val800Leu) c.1954G>C (p.Val652Leu) | |
| 17 | g.29534154G= | CA2254807135 | TAOK1 | c.2398G= (p.Val800=) c.1954G= (p.Val652=) | |
| 17 | g.29534154G>T | CA398917060 | TAOK1 | c.2398G>T (p.Val800Phe) c.1954G>T (p.Val652Phe) | |
| 17 | g.29534155T>A | CA398917066 | TAOK1 | c.2399T>A (p.Val800Asp) c.1955T>A (p.Val652Asp) | |
| 17 | g.29534155T>C | CA398917068 | TAOK1 | c.2399T>C (p.Val800Ala) c.1955T>C (p.Val652Ala) | |
| 17 | g.29534155T>G | CA398917070 | TAOK1 | c.2399T>G (p.Val800Gly) c.1955T>G (p.Val652Gly) | |
| 17 | g.29534156T>A | CA499152357 | TAOK1 | c.2400T>A (p.Val800=) c.1956T>A (p.Val652=) | |
| 17 | g.29534156T>C | CA499152358 | TAOK1 | c.2400T>C (p.Val800=) c.1956T>C (p.Val652=) | |
| 17 | g.29534156T>G | CA499152359 | TAOK1 | c.2400T>G (p.Val800=) c.1956T>G (p.Val652=) | |
| 17 | g.29534157T>A | CA398917073 | TAOK1 | c.2401T>A (p.Leu801Met) c.1957T>A (p.Leu653Met) | |
| 17 | g.29534157T>C | CA499152360 | TAOK1 | c.2401T>C (p.Leu801=) c.1957T>C (p.Leu653=) | |
| 17 | g.29534157T>G | CA398917075 | TAOK1 | c.2401T>G (p.Leu801Val) c.1957T>G (p.Leu653Val) | |
| 17 | g.29534158T>A | CA398917079 | TAOK1 | c.2402T>A (p.Leu801Ter) c.1958T>A (p.Leu653Ter) | |
| 17 | g.29534158T>C | CA398917081 | TAOK1 | c.2402T>C (p.Leu801Ser) c.1958T>C (p.Leu653Ser) | |
| 17 | g.29534158T>G | CA398917084 | TAOK1 | c.2402T>G (p.Leu801Trp) c.1958T>G (p.Leu653Trp) | |
| 17 | g.29534159G>A | CA499152361 | TAOK1 | c.2403G>A (p.Leu801=) c.1959G>A (p.Leu653=) | dbSNP gnomAD v2 |
| 17 | g.29534159G>C | CA398917087 | TAOK1 | c.2403G>C (p.Leu801Phe) c.1959G>C (p.Leu653Phe) | |
| 17 | g.29534159G= | CA2254807139 | TAOK1 | c.2403G= (p.Leu801=) c.1959G= (p.Leu653=) | |
| 17 | g.29534159G>T | CA398917089 | TAOK1 | c.2403G>T (p.Leu801Phe) c.1959G>T (p.Leu653Phe) | |
| 17 | g.29534160A>C | CA398917091 | TAOK1 | c.2404A>C (p.Lys802Gln) c.1960A>C (p.Lys654Gln) | |
| 17 | g.29534160A>G | CA398917094 | TAOK1 | c.2404A>G (p.Lys802Glu) c.1960A>G (p.Lys654Glu) | |
| 17 | g.29534160A>T | CA398917096 | TAOK1 | c.2404A>T (p.Lys802Ter) c.1960A>T (p.Lys654Ter) | |
| 17 | g.29534161A>C | CA398917102 | TAOK1 | c.2405A>C (p.Lys802Thr) c.1961A>C (p.Lys654Thr) | |
| 17 | g.29534161A>G | CA398917105 | TAOK1 | c.2405A>G (p.Lys802Arg) c.1961A>G (p.Lys654Arg) | |
| 17 | g.29534161A>T | CA398917100 | TAOK1 | c.2405A>T (p.Lys802Met) c.1961A>T (p.Lys654Met) | |
| 17 | g.29534162G>A | CA499152362 | TAOK1 | c.2406G>A (p.Lys802=) c.1962G>A (p.Lys654=) | |
| 17 | g.29534162G>C | CA398917111 | TAOK1 | c.2406G>C (p.Lys802Asn) c.1962G>C (p.Lys654Asn) | |
| 17 | g.29534162G>T | CA398917110 | TAOK1 | c.2406G>T (p.Lys802Asn) c.1962G>T (p.Lys654Asn) | |
| 17 | g.29534163A>C | CA398917119 | TAOK1 | c.2407A>C (p.Met803Leu) c.1963A>C (p.Met655Leu) | |
| 17 | g.29534163A>G | CA398917115 | TAOK1 | c.2407A>G (p.Met803Val) c.1963A>G (p.Met655Val) | |
| 17 | g.29534163A>T | CA398917117 | TAOK1 | c.2407A>T (p.Met803Leu) c.1963A>T (p.Met655Leu) | |
| 17 | g.29534164T>A | CA398917122 | TAOK1 | c.2408T>A (p.Met803Lys) c.1964T>A (p.Met655Lys) | |
| 17 | g.29534164T>C | CA398917125 | TAOK1 | c.2408T>C (p.Met803Thr) c.1964T>C (p.Met655Thr) | |
| 17 | g.29534164T>G | CA398917128 | TAOK1 | c.2408T>G (p.Met803Arg) c.1964T>G (p.Met655Arg) | |
| 17 | g.29534165G>A | CA398917135 | TAOK1 | c.2409G>A (p.Met803Ile) c.1965G>A (p.Met655Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29534165G>C | CA398917133 | TAOK1 | c.2409G>C (p.Met803Ile) c.1965G>C (p.Met655Ile) | |
| 17 | g.29534165G= | CA2254807142 | TAOK1 | c.2409G= (p.Met803=) c.1965G= (p.Met655=) | |
| 17 | g.29534165G>T | CA398917130 | TAOK1 | c.2409G>T (p.Met803Ile) c.1965G>T (p.Met655Ile) | |
| 17 | g.29534166C>A | CA398917138 | TAOK1 | c.2410C>A (p.Gln804Lys) c.1966C>A (p.Gln656Lys) | |
| 17 | g.29534166C>G | CA398917141 | TAOK1 | c.2410C>G (p.Gln804Glu) c.1966C>G (p.Gln656Glu) | |
| 17 | g.29534166C>T | CA398917143 | TAOK1 | c.2410C>T (p.Gln804Ter) c.1966C>T (p.Gln656Ter) | |
| 17 | g.29534167A>C | CA398917145 | TAOK1 | c.2411A>C (p.Gln804Pro) c.1967A>C (p.Gln656Pro) | |
| 17 | g.29534167A>G | CA398917147 | TAOK1 | c.2411A>G (p.Gln804Arg) c.1967A>G (p.Gln656Arg) | |
| 17 | g.29534167A>T | CA398917149 | TAOK1 | c.2411A>T (p.Gln804Leu) c.1967A>T (p.Gln656Leu) | |
| 17 | g.29534168G>A | CA8474856 | TAOK1 | c.2412G>A (p.Gln804=) c.1968G>A (p.Gln656=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29534168G>C | CA398917156 | TAOK1 | c.2412G>C (p.Gln804His) c.1968G>C (p.Gln656His) |